Narooie-Nejad Mehrnaz, Taji Omid, Kordi Tamandani Dor Mohammad, Kaykhaei Mahmoud Ali
Genetics of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Sistan and Baluchestan 9816743463, Iran; Department of Genetics, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Sistan and Baluchestan 9816743463, Iran.
Department of Biology, Sistan and Baluchestan University, Zahedan, Sistan and Baluchestan 98155-987, Iran.
Biomed Rep. 2017 Jan;6(1):108-112. doi: 10.3892/br.2016.813. Epub 2016 Nov 17.
Hashimoto's thyroiditis (HT) is a chronic inflammation of the thyroid gland and is known as the most common autoimmune disease. Development of autoimmune destruction of thyroid cells is a multi-step process involving convergence of genetic and environmental factors. Cytotoxic T-lymphocyte antigen-4 (CTLA-4) has an important role in homeostasis and negative regulation of immune responses, and is therefore considered to be a key element in the development of autoimmune diseases. The present study evaluated the association of the CTLA-4 gene polymorphisms 318C/T (rs5742909) and +49A/G (rs231775) with HT in an Iranian population (including 82 patients with HT and 104 healthy controls who were referred for routine premarital blood screenings). Genotyping was performed using the tetra-primer amplification refractory mutation system polymerase chain reaction technique. No significant differences were observed in genotype and allele frequencies in the single nucleotide polymorphisms (SNPs) between cases and controls. In the cases as well as in the controls, the TT genotype in the -318C/T polymorphism was absent and the predominant genotype was CC, while the predominant genotype for the +49A/G SNP was AA. As only few studies in this field have assessed Iranian and even Middle Eastern populations, additional studies with a higher number of samples are recommended to further assess the impact of -318C/T (rs5742909) and +49A/G (rs231775) polymorphisms of CTLA-4 on HT.
桥本甲状腺炎（HT）是一种甲状腺的慢性炎症，是最常见的自身免疫性疾病。甲状腺细胞自身免疫性破坏的发展是一个多步骤过程，涉及遗传和环境因素的共同作用。细胞毒性T淋巴细胞抗原4（CTLA - 4）在免疫反应的稳态和负调控中起重要作用，因此被认为是自身免疫性疾病发展的关键因素。本研究评估了CTLA - 4基因多态性318C/T（rs5742909）和+49A/G（rs231775）与伊朗人群HT的相关性（包括82例HT患者和104名因常规婚前血液筛查而转诊的健康对照）。使用四引物扩增阻滞突变系统聚合酶链反应技术进行基因分型。病例组和对照组之间单核苷酸多态性（SNP）的基因型和等位基因频率未观察到显著差异。在病例组和对照组中，-318C/T多态性中TT基因型不存在，主要基因型为CC，而+49A/G SNP的主要基因型为AA。由于该领域仅有少数研究评估了伊朗乃至中东人群，因此建议进行更多样本的进一步研究，以进一步评估CTLA - 4的-318C/T（rs5742909）和+49A/G（rs231775）多态性对HT的影响。
